Varaico: Literature-Extracted Genetic Variants

CACNA2D3

148 papers

RefSeq Summary

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membr...

Pfam Domains

VWA_Naa 113–229UCSCVWA N-terminal

VWA_3aa 255–419UCSCvon Willebrand factor type A domain

VGCC_alpha2aa 642–1068UCSCNeuronal voltage-dependent calcium channel alpha 2acd

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit alpha2delta 3

HGNC Alias Symbols

HSA272268; alpha2delta-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_018398.3

p.R810W

c.2428C>T

Surrounding Variants

1 paper

NM_018398.3

p.E809G

c.2426A>G

1 paper

NM_018398.3

p.P813L

c.2438C>T

1 paper

NM_018398.3

p.A817T

c.2449G>A

1 paper

NM_018398.3

p.S784L

c.2351C>T

1 paper

NM_018398.3

p.V782I

c.2344G>A

1 paper

NM_018398.3

p.P778L

c.2333C>T

1 paper

NM_018398.3

p.P778S

c.2332C>T

1 paper

NM_018398.3

p.A774T

c.2320G>A

6 papers

NM_018398.3

p.A773V

c.2318C>T

1 paper

NM_018398.3

p.R771Q

c.2312G>A

2 papers

NM_018398.3

p.D756N

c.2266G>A

1 paper

NM_018398.3

p.G755G

c.2265C>T